703528008: Cutis gyrata syndrome of Beare and Stevenson (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)

\Head finding (finding)\Cranial suture finding (finding)\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)

\Functional finding\Abnormal keratinization\Disorder of keratinisation\...

\Acanthosis nigricans (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)

\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Acanthosis nigricans (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Acanthosis nigricans (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson (disorder)

\Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Musculoskeletal finding (finding)\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Musculoskeletal finding (finding)\Joint finding\Cranial suture finding (finding)\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Acanthosis nigricans (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Cutis gyrata syndrome of Beare and Stevenson (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Cutis gyrata syndrome of Beare and Stevenson (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Is a	Congenital anomaly of skin (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Is a	Hereditary disorder of the integument (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Is a	Craniosynostosis syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Associated morphology	Congenital premature fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Finding site	Joint structure of suture of skull	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Is a	Connective tissue hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Finding site	Bone structure of cranium	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Is a	Inherited disorder of keratinisation	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Is a	Acanthosis nigricans (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Has interpretation	Abnormal	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Interprets	Keratinisation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Cutis gyrata syndrome of Beare and Stevenson (disorder)	Associated morphology	Premature fusion (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3009081015	Cutis gyrata syndrome of Beare and Stevenson	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009171017	Beare-Stevenson cutis gyrata syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3009385019	Cutis gyrata syndrome of Beare and Stevenson (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4029018019	Cutis gyrata, acanthosis nigricans, craniosynostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3009081015	Cutis gyrata syndrome of Beare and Stevenson	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3009171017	Beare-Stevenson cutis gyrata syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3009385019	Cutis gyrata syndrome of Beare and Stevenson (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
4029018019	Cutis gyrata, acanthosis nigricans, craniosynostosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3392981001000111	Cutis gyrata-Acanthosis nigricans-Kraniosynostose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5854971000241112	syndrome cutis gyrata de Beare et Stevenson	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5854971000241112	syndrome cutis gyrata de Beare et Stevenson	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3392981001000111	Cutis gyrata-Acanthosis nigricans-Kraniosynostose-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module